Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences

Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences

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Veröffentlicht in:Journal of investigative dermatology 2013-10, Vol.133 (10), p.2483-2486
Hauptverfasser: Kiritsi, Dimitra, Chmel, Nadja, Arnold, Andreas W., Jakob, Thilo, Bruckner-Tuderman, Leena, Has, Cristina
Format: Artikel
Sprache:eng
Schlagworte:
Adaptor Proteins, Vesicular Transport
Aged
Carrier Proteins - genetics
Female
Genetic Variation
Humans
Keratoderma, Palmoplantar - genetics
Keratoderma, Palmoplantar - pathology
Male
Middle Aged
RNA Splice Sites - genetics
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container_title Journal of investigative dermatology
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creator Kiritsi, Dimitra
Chmel, Nadja
Arnold, Andreas W.
Jakob, Thilo
Bruckner-Tuderman, Leena
Has, Cristina
description
doi_str_mv 10.1038/jid.2013.171
format Article
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subjects Adaptor Proteins, Vesicular Transport
Aged
Carrier Proteins - genetics
Female
Genetic Variation
Humans
Keratoderma, Palmoplantar - genetics
Keratoderma, Palmoplantar - pathology
Male
Middle Aged
RNA Splice Sites - genetics
title Novel and Recurrent AAGAB Mutations: Clinical Variability and Molecular Consequences
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